Canonical Allele Identifier: CA1826368000

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515003_144515004delinsAG , CM000670.2:g.144515003_144515004delinsAG	GRCh38
NC_000008.10:g.145740387_145740388delinsAG , CM000670.1:g.145740387_145740388delinsAG	GRCh37
NC_000008.9:g.145711195_145711196delinsAG	NCBI36
NG_016430.1:g.7823_7824delinsCT
NG_033083.1:g.2039_2040delinsAG
NG_016430.2:g.7823_7824delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.575_576delinsCT
ENST00000617875.6:c.1552_1553delinsCT MANE Select	ENSP00000482313.2:p.Leu518=
ENST00000532846.2:c.407_408delinsCT
ENST00000617875.4:c.1552_1553delinsCT	ENSP00000482313.1:p.Leu518=
ENST00000621189.4:c.481_482delinsCT	ENSP00000483145.1:p.Leu161=
NM_004260.3:c.1552_1553delinsCT	NP_004251.3:p.Leu518=
XM_011517380.1:c.1552_1553delinsCT	XP_011515682.1:p.Leu518=
XM_011517381.1:c.1456_1457delinsCT	XP_011515683.1:p.Leu486=
XM_011517382.1:c.1552_1553delinsCT	XP_011515684.1:p.Leu518=
XM_011517383.1:c.1552_1553delinsCT	XP_011515685.1:p.Leu518=
XM_011517384.1:c.1552_1553delinsCT	XP_011515686.1:p.Leu518=
XM_011517385.1:c.415_416delinsCT	XP_011515687.1:p.Leu139=
XR_928366.1:n.1593_1594delinsCT
XR_928367.1:n.1593_1594delinsCT
XR_928368.1:n.1595_1596delinsCT
XM_011517384.3:c.1552_1553delinsCT	XP_011515686.1:p.Leu518=
XM_017013991.2:c.1552_1553delinsCT	XP_016869480.1:p.Leu518=
XM_017013992.2:c.1552_1553delinsCT	XP_016869481.1:p.Leu518=
XM_017013993.2:c.1552_1553delinsCT	XP_016869482.1:p.Leu518=
XM_017013994.2:c.1456_1457delinsCT	XP_016869483.1:p.Leu486=
XM_017013995.2:c.1552_1553delinsCT	XP_016869484.1:p.Leu518=
XM_017013996.2:c.1552_1553delinsCT	XP_016869485.1:p.Leu518=
XM_017013997.2:c.1552_1553delinsCT	XP_016869486.1:p.Leu518=
XM_017013998.1:c.1552_1553delinsCT	XP_016869487.1:p.Leu518=
XM_017013999.2:c.1552_1553delinsCT	XP_016869488.1:p.Leu518=
XM_017014000.1:c.415_416delinsCT	XP_016869489.1:p.Leu139=
XM_017014001.2:c.415_416delinsCT	XP_016869490.1:p.Leu139=
XR_001745626.2:n.1589_1590delinsCT
XR_001745627.2:n.1589_1590delinsCT
XR_001745628.2:n.1589_1590delinsCT
XR_001745629.2:n.1589_1590delinsCT
XR_001745630.2:n.1589_1590delinsCT
NM_004260.4:c.1552_1553delinsCT MANE Select	NP_004251.4:p.Leu518=